Klinische FragestellungGlukokortikoid-Defizienz, familiär; Differentialdiagnose

NGS +

[Sanger]

Primäre Nebenniereninsuffizienzen mit neonataler Hyperpigmentierung, Hypoglykämie, Gedeihstörungen, wiederkehrenden Infektionen; biochemischer Glukokortikoidmangel ohne Mineralokortikoidmangel.

Die funktionelle NR3C1-Defizienz (Glucocorticoid-Rezeptor) zeigt ähnliche Symptome.

• Alias: Congenital adrenal hypoplasia; Familial glucocorticoid deficiency
• Allelic: 46XX sex reversal 4 (NR5A1)
• Allelic: 46XY sex reversal (NR5A1)
• Allelic: 46XY sex reversal 2, dosage-sensitive (NR0B1)
• Allelic: Albinism, oculocutaneous, type II, modifier of (MC1R)
• Allelic: Analgesia from kappa-opioid receptor agonist, female-specific (MC1R)
• Allelic: Beckwith-Wiedemann syndrome (CDKN1C)
• Allelic: Colorectal cancer, susceptibility to, 12 (POLE)
• Allelic: Melanoma, cutaneous malignant, 5 (MC1R)
• Allelic: Obesity, early-onset, susceptibility to (POMC)
• Allelic: Premature ovarian failure 7 (NR5A1)
• Allelic: Skin/hair/eye pigmentation 2, blond hair/fair skin (MC1R)
• Allelic: Skin/hair/eye pigmentation 2, red hair/fair skin (MC1R)
• Allelic: Spermatogenic failure 8 (NR5A1)
• Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
• Allelic: UV-induced skin damage (MC1R)
• Achalasia-addisonianism-alacrimia syndrome (AAAS)
• Adrenal hypoplasia, congenital (NR0B1)
• Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (CYP11A1)
• Adrenocortical insufficiency (NR5A1)
• Adrenocorticotropic hormone deficiency (TBX19)
• Adrenoleukodystrophy (ABCD1)
• Adrenomyeloneuropathy, adult (ABCD1)
• Allelic: Aldosterone to renin ratio raised (CYP11B1)
• Allelic: Low renin hypertension, susceptibility to (CYP11B1)
• Autoimmune polyendocrinopathy syndrome , type I, with/-out reversible metaphyseal dysplasia (AIRE)
• FILS - Facial dysmorphism, Immunodeficiency, Livedo, Short stature - syndrome (POLE)
• Glucocorticoid deficiency 2 (MRAP)
• Glucocorticoid deficiency 4, with/-out mineralocorticoid deficiency (NNT)
• Glucocorticoid deficiency 5 (TXNRD2)
• Glucocorticoid deficiency, due to ACTH unresponsiveness (MC2R)
• Hypoaldosteronism, congenital, due to CMO I deficiency (CYP11B1)
• Hypoaldosteronism, congenital, due to CMO II deficiency (CYP11B1)
• IMAGE syndrome (CDKN1C)
• IMAGE-I syndrome (POLE)
• Immunodeficiency 54 (MCM4)
• Lipoid adrenal hyperplasia (STAR)
• MIRAGE syndrome (SAMD9)
• Nephrotic syndrome, type 14 (SGPL1)
• Obesity, adrenal insufficiency, red hair due to POMC deficiency (POMC)